cylindromatosis

(redirected from familial cylindromatosis)

cylindromatosis

(sil-in-drō'mă-tō'sis),
A rare genetic disorder [MIM#132700] characterized by the formation of numerous benign papules and nodules arising from skin adnexal structures and occurring principally on the face and scalp. When lesions are confluent the condition is called a "turban tumor."

CLYD

A gene on chromosome 16q12.1 that encodes a cytoplasmic protein with deubiquitinating activity and plays a key role in regulating pathways leading to NF-kappa-B activation, which affects cell survival, proliferation and differentiation.

Molecular pathology
CLYD mutations are causatively linked to cylindromatosis, multiple familial trichoepithelioma and Brooke-Spiegler syndrome.

cylindromatosis

A rare familial disorder featuring a ‘turban’ of numerous benign skin tumours affecting mainly the forehead and scalp. Cylindromas are caused by a mutation of the CYLD gene and is a condition with variable penetrance. The CYLD gene codes for an enzyme that remove ubiquitin from proteins. The loss of CYLD increases the level of a transcription factor that inhibits APOPTOSIS, thus promoting tumour formation.
References in periodicals archive ?
Depending on the predominant type of lesion, phenotypic variants include multiple familial trichoepithelioma type 1 and familial cylindromatosis. (2) BSS is caused by mutations within CYLD, a tumor-suppressor gene located on chromosome 16q12-q13.
Brooke-Spiegler syndrome, familial cylindromatosis and multiple familial trichoepithelioma are allelic and are considered to represent phenotypic spectrum of a single disease entity.
CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes.
Hereditary Conditions.--Multiple cylindromas (socalled turban tumor) are seen in familial cylindromatosis (Brooke-Spiegler syndrome), which is inherited in an autosomal dominant fashion.
(302) However, no mutations in the regions coding for this domain have been found in patients with familial cylindromatosis.
Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16q12-q13: evidence for its role as a tumour suppressor gene.
Identification of the familial cylindromatosis tumour-suppressor gene.
Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages.

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